An Integrated Microfluidic Platform for Detecting BRCA1/BRCA2 Gene Mutation and Risk Assessment of Ovarian Cancer

Yuen Cheng, Chih-Hung Wang, K. Hsu, Gwo-Bin Lee
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引用次数: 1

Abstract

Ovarian cancer is known as a “silent killer” for women because it is difficult to be diagnosed at early stages. The five-year survival rate of early-stage ovarian cancer is 92%, but at the late stages, drops to only 17%. Several tools have been used for ovarian cancer screening; however, the outcome is still not satisfactory. Therefore, there is a great need to develop a new method to screen ovarian cancer precisely. Recently, BRCA1/2 gene mutations were confirmed to be highly associate with the occurrence of ovarian cancer. Patients with these gene mutations are risky of developing it in their lifetime. Liquid biopsy such as cell-free DNA (cfDNA) is an emerging non-invasive technology that brings information about tumors from the blood. Previous studies have found BRCA1/2 gene mutations in cfDNA could serve a potential tool for the screening and risk assessment of ovarian cancer. Therefore, an integrated microfluidic system was developed in this work to extract cfDNA from patients' plasma and BRCA1/2 gene mutations were verified automatically, which can provide clinicians a convenient way for risk assessment.
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BRCA1/BRCA2基因突变检测及卵巢癌风险评估的集成微流控平台
卵巢癌被称为女性的“无声杀手”,因为在早期阶段很难被诊断出来。早期卵巢癌的5年生存率为92%,但到了晚期,存活率仅为17%。有几种工具被用于卵巢癌筛查;然而,结果仍然不令人满意。因此,迫切需要开发一种新的方法来精确筛查卵巢癌。最近,BRCA1/2基因突变被证实与卵巢癌的发生高度相关。患有这些基因突变的患者在其一生中有患这种疾病的风险。液体活检,如无细胞DNA (cfDNA)是一种新兴的非侵入性技术,可以从血液中获取肿瘤信息。先前的研究发现,cfDNA中的BRCA1/2基因突变可以作为卵巢癌筛查和风险评估的潜在工具。因此,本研究开发了一种集成的微流控系统,用于从患者血浆中提取cfDNA,并自动验证BRCA1/2基因突变,为临床医生提供一种便捷的风险评估方法。
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